Condition: Episodic metabolic acidosis


rs867410737 in ATP5F1D gene and Episodic metabolic acidosis PMID 29478781 2018 Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

rs372949028 in TANGO2 gene and Episodic metabolic acidosis PMID 26805781 2016 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.